P63

P63
  • 文章类型: Journal Article
    巨细胞瘤(GCT)是一种良性,局部侵袭性肿瘤复发率高,常见于长骨和颌面部骨,非常罕见。由于案件很少,关于肿瘤的行为没有足够的信息。此外,这种侵袭性病变与常见的反应性巨细胞病变的区别至关重要,需要更多的研究。本研究涉及口腔GCT病例及其临床病理的文献综述,射线照相,和生化分析。尽管没有关于该病变的免疫组织化学特征的可用研究,这项研究是朝着这个方向迈出的第一步,以更好地区分这种肿瘤并确定可能的发病机制。
    Giant cell tumor (GCT) is a benign, locally aggressive neoplasm with a high recurrence rate with common occurrence in the long bone and the cases in the maxillofacial region bone are very rare. Due to the paucity of the cases, there is not enough information available regarding the behavior of the tumor. Also, the differentiation of this aggressive lesion with the commonly occurring reactive giant cell lesions is crucial and needs more research. This study is pertaining to the review of literature of the cases of GCT in the oral cavity with their clinicopathological, radiographic, and biochemical analyses. Although there are no available studies regarding the immunohistochemical characteristics of this lesion, this study is the first step in this direction to differentiate this tumor better and identify the possible pathogenesis.
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  • 文章类型: Journal Article
    膀胱癌是一种全球性疾病,排名第四最常见的癌症。发病率和患病率随年龄增长而增加。已发现等级和侵袭性与不同的遗传表达和突变有关。
    评估尿路上皮癌的分级和侵袭性与免疫组织化学标记p63和her2/neu的不同表达的任何关系。
    本研究是一项基于医院的前瞻性横断面研究。这项研究于2021年7月至2023年4月在三级保健医院的泌尿外科进行。本研究共纳入90例接受经尿道膀胱肿瘤切除术(TURBT)的患者。
    发现,与p63表达正常的患者(32.8%)相比,p63表达下降的患者肿瘤分级较高(93.1%),这具有统计学意义(p<0.0001).p63减少的肿瘤似乎也更具侵袭性,发现62.1%是肌肉侵入性的。发现具有her2neu表达的肿瘤在性质上更具侵袭性,85.7%具有高级特征,53.6%为肌肉侵入性。
    我们的发现表明,在膀胱癌的情况下,HER2/neu阳性的免疫组织化学表达和p63表达降低与高分级和侵袭性有关。
    UNASSIGNED: Bladder cancer is a global disease, ranks as the fourth most prevalent cancer. The incidence and prevalence increase with age. Grade and aggressiveness have been found to be related with different genetic expression and mutation.
    UNASSIGNED: To evaluate any relation of grade and invasiveness of urothelial cancer with varied expression of immune histochemical marker p63 and her2/neu.
    UNASSIGNED: The present study was a hospital based prospective cross-sectional study. This Study was conducted from July 2021 to April 2023 in the Urology department of a tertiary care hospital. Total 90 patients undergoing trans urethral resection of bladder tumour (TURBT) were included in this study.
    UNASSIGNED: It was found that, patients who had decreased p63 expression had high grade in tumours (93.1%) compared to patients who were expressing normal p63 (32.8%) and this was statistically significant (p < 0.0001). Tumours with decreased p63 also appeared to be more invasive, 62.1% were found to be muscle invasive. Tumours with her2 neu expression found to be more aggressive in nature, 85.7% had high grade features and 53.6% were muscle invasive.
    UNASSIGNED: Our findings suggest that immunohistochemical expression of HER2/neu positive and decreased p63 expression were associated with high grade and invasiveness in case of bladder carcinoma.
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  • 文章类型: Journal Article
    睾丸(NUT)中线癌中的核蛋白来自鳞状细胞,通常位于头部,脖子,还有肺.本报告集中在NUT癌的诊断中p63突变阴性和年龄较大,具有显著的预后意义。一名62岁的患者最初有三年的复发性额叶头痛病史,间歇性鼻出血,还有鼻腔肿块的感觉.切开活检显示左上颌窦中有低分化的NUT癌。进行了功能性内窥镜鼻窦手术,但癌症复发了.因此,进行了上颌骨全切除术,患者被宣布为无癌,没有残留疾病的证据。这是老年患者p63阴性中线NUT细胞癌(NCC)的罕见病例,与其他报道的病例相比,这可能有助于更有利的预后和更长的生存期。
    结论:NUT癌的分子分析和诊断年龄可能是预测中线NCC患者预后的潜在手段。每位患者都应接受仔细的监测,并根据其分子研究制定个性化的治疗策略。手术切除,结合放疗和化疗,有可能提高整体生存率。与通常观察到的p63突变增加和生存率降低之间的关系一致,鳞状细胞癌中p63阴性表达可能表明预后更有利。这一假设强调了进一步研究验证这些发现的重要性。
    A nuclear protein in testis (NUT) midline carcinoma arises from squamous cells and is often located in the head, neck, and lungs. This report focuses on the negative p63 mutation and older age at the diagnosis of a NUT carcinoma, which has significant prognostic implications. A 62-year-old patient presented initially with a three-year history of recurring frontal headaches, intermittent nasal bleeding, and a sensation of a nasal cavity mass. An incisional biopsy revealed a poorly differentiated NUT carcinoma in the left maxillary sinus. A functional endoscopic sinus surgery was performed, but the cancer recurred. As a result, a total maxillectomy was performed, and the patient was declared cancer-free with no evidence of residual disease. This is a rare instance of a p63-negative midline NUT cell carcinoma (NCC) in an elderly patient, which could potentially contribute to a more favourable prognosis and longer survival compared to other reported cases.
    CONCLUSIONS: Molecular analysis of a NUT carcinoma and age at diagnosis may serve as a potential means for predicting patient prognosis in cases of midline NCC.Each patient should receive careful monitoring and a personalised treatment strategy based on their molecular studies. Surgical resection, along with a combination of radiotherapy and chemotherapy, has the potential to improve overall survival rates.In line with the commonly observed relationship between increased p63 mutation and poorer survival rates, a negative p63 expression in squamous cell carcinomas may indicate a more favorable prognosis. This hypothesis highlights the importance of further research to validate these findings.
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  • 文章类型: Case Reports
    已在MiT家族易位肾细胞癌以及血管周围上皮样细胞肿瘤(PEComas)中描述了NONO::TFE3融合。已知PEComas表达生肌和黑素细胞标记,但从未报道过SOX10和p63阳性。我们报告了两种在形态和分子上符合PEComas的原发性皮肤肿瘤,两者都拥有NONO::TFE3融合,但具有不寻常的SOX10和p63阳性免疫表型。一个案例是在一个80岁的男性手指上,另一个在72岁的女性大腿上。两者都是界限清楚的多结节性真皮肿瘤,由单调的上皮样细胞至梭状细胞的巢组成,细胞质苍白至液泡状,其中一些排列在血管周围。两种肿瘤均为SOX10,S100和p63阳性,局部为Melan-A阳性,生肌标记呈阴性。关于原发性皮肤PEComas的分子发现的数据很少。虽然NONO::TFE3融合已经在皮肤外PEComas中被发现,在原发性皮肤病例中从未报道过。我们认为这些病例代表了以前未描述的皮肤肿瘤亚型,该亚型显示了黑素细胞标志物的一些免疫表型表达,我们将这些病例命名为NONO::TFE3融合皮肤上皮样和梭形细胞肿瘤。Further,我们提出了一个问题,这个肿瘤是否应该因为它的形态而属于PEComa的范畴,黑素细胞标志物的部分表达,以及NONO::TFE3融合的存在,或者这些肿瘤是否代表了一个单独的新类型的肿瘤,因为SOX10和p63的免疫表型表达对于PEComas来说是不寻常的。
    The NONO::TFE3 fusion has been described in MiT family translocation renal cell carcinomas as well as extracutaneous perivascular epithelioid cell tumors (PEComas). PEComas are known to express myogenic and melanocytic markers but SOX10 and p63 positivity has never been reported. We report two primary cutaneous tumors that morphologically and molecularly fit PEComas, both harboring the NONO::TFE3 fusion, but with an unusual immunophenotype of SOX10 and p63 positivity. One case was on an 80-year-old male\'s finger, and the other one was on a 72-year-old female\'s thigh. Both were well-circumscribed multinodular dermal tumors composed of nests of monotonous epithelioid to spindled cells with pale to vacuolated cytoplasm, some of which were arranged around blood vessels. Both tumors were positive for SOX10, S100, and p63, focally positive for Melan-A, and negative for myogenic markers. There are very little data regarding the molecular findings of primary cutaneous PEComas. While the NONO::TFE3 fusion has been identified in extracutaneous PEComas, it has never been reported in primary cutaneous cases. We believe these cases represent a previously undescribed subtype of cutaneous tumor which shows some immunophenotypic expression of melanocytic markers and we named these cases NONO::TFE3 fusion cutaneous epithelioid and spindle cell tumor. Further, we raise the question of whether this tumor should fall under the rubric of PEComa because of its morphology, partial expression of melanocytic markers, and the presence of the NONO::TFE3 fusion, or whether these tumors represent a separate novel class of tumors since the immunophenotypic expression of SOX10 and p63 is unusual for PEComas.
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  • 文章类型: Case Reports
    作者报告了一个罕见的病例报告,该病例报告涉及手脚分裂畸形(SHFM),有时也被称为外翻畸形。
    手脚畸形患者出现伤亡。一名60岁的男性被指控有道路交通事故史,左大腿有压痛和畸形。在进一步的体检中,双侧双脚和右手出现畸形。在紧急初级处理后进行了X线平片检查,发现左侧股骨干骨折,双侧脚没有第2和第3指骨,右手没有龙虾爪状畸形。对患者进行了进一步调查,并用股骨交锁钉进行了手术,然后在稳定的情况下出院。筛查其他先天性缺陷。
    SHFM患者应接受其他先天性异常筛查。心电图,2DECHO,胸部X光片,应该做腹部超声检查。理想情况下,应进行遗传分析以鉴定所涉及的突变。仅当患者需要改善肢体功能时才需要手术干预。
    UNASSIGNED: Authors report a rare case report about split hand and foot malformation (SHFM) also sometimes referred to as ectrodactyly.
    UNASSIGNED: The patient with hand and foot malformations presented to casualty. A 60-year-old male was brought with alleged history of road traffic accident with tenderness and deformity in left thigh. On further physical examination, a malformation was present in bilateral feet and right hand. Plain radiographs were taken after emergency primary management which revealed a fracture of shaft of femur of the left side and absence of 2nd and 3rd phalanges in bilateral feet and lobster claw like malformation in the right hand. The patient was further investigated and operated with femur interlocking nail and later discharged under stable condition. Screening for other congenital defects was done.
    UNASSIGNED: Patients with SHFM should undergo screening for other congenital anomalies. Electrocardiogram, 2D ECHO, chest radiograph, and ultrasonography abdomen should be done. Genetic analysis ideally should be done to identify mutations involved. Surgical intervention is only required when patient demands improved function of limb.
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  • 文章类型: Case Reports
    背景:上皮样滋养细胞肿瘤(ETT)是最罕见的妊娠滋养细胞肿瘤(GTT)类型。据报道,超过50%的ETT出现在子宫颈或子宫下段。这里,我们报告一例子宫下段和宫颈管内的ETT,并讨论其表现,可能的原因,及相关影响因素。
    方法:一名35岁妇女(妊娠7,流产3,引产2,其中1对双胞胎,剖宫产的第2段,live2),谁有闭经9个月后母乳喂养22个月后最后一次剖宫产,被诊断患有ETT。病变存在于子宫下段和宫颈管内,并严重累及剖宫产切口的子宫下段前壁和子宫下段前壁。实验室测试显示血清β-人绒毛膜促性腺激素略有升高。术中探查显示存在正常大小的子宫体,子宫下段肿瘤增大。子宫下段表面呈浅蓝色,整个病变约8cm×8cm×9cm,周围组织的压缩和位移。组织学检查诊断为ETT。免疫组织化学分析显示p63阳性表达,Ki-67增殖指数为40%。
    结论:使用搜索词“剖宫产”和“上皮样滋养细胞肿瘤”搜索PubMed数据库,检索到9篇文章,包括13例ETT和ETT相关病变,13例均有剖宫产史,病灶均位于子宫下段前壁剖宫产切口处。本病例是第14例报道的剖宫产术后ETT病例。因此,我们推断剖宫产创伤对该部位ETT的发生有重要影响.
    BACKGROUND: Epithelioid trophoblastic tumor (ETT) is the rarest type of gestational trophoblastic tumor (GTT). It has been reported that more than 50% of ETTs arise in the uterine cervix or the lower uterine segment. Here, we report a case of ETT within the lower uterine segment and cervical canal and discuss its manifestations, possible causes, and related influencing factors.
    METHODS: A 35-year-old woman (gravida 7, miscarriage 3, induction 2 with 1 being twins, para 2 of cesarean section, live 2), who had amenorrhea for 9 mo after breastfeeding for 22 mo after the last cesarean section, was diagnosed with ETT. The lesion was present in the lower uterine segment and endocervical canal with severe involvement of the anterior wall of the lower uterine segment and the front wall of the lower uterine segment where the cesarean incisions were made. Laboratory tests showed slight elevation of serum beta-human chorionic gonadotropin. Intraoperative exploration showed the presence of a normal-sized uterus body with an enlarged tumor in the lower uterine segment. The surface of the lower uterine segment was light blue, the entire lesion was approximately about 8 cm × 8 cm × 9 cm, with compression and displacement of the surrounding tissue. Histological examination diagnosed ETT. Immunohistochemical analysis showed positive expression of p63, with a Ki-67 proliferation index of 40%.
    CONCLUSIONS: A search of the PubMed database using the search terms \"cesarean section\" and \"epithelioid trophoblastic tumor\" retrieved nine articles, including 13 cases of ETT and ETT-related lesions, all 13 cases had a history of cesarean section, and the lesions were all located at the cesarean section incision on the anterior wall of the lower uterine segment. The present case is the 14th reported case of ETT after cesarean section. Therefore, we deduced that cesarean section trauma had an important effect on the occurrence of ETT at this site.
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  • 文章类型: Case Reports
    未经授权:颌下腺皮脂腺癌(SC)极为罕见。由于低发病率和非特异性临床表现,诊断通常是延迟的,这增加了转移和死亡率。迄今为止,已报道5例颌下腺SC。这里,我们提出了一个新的案例,并回顾了相关的文献。
    未经授权:一名36岁的妇女,左侧颌下腺增大。临床特征包括具有正常覆盖皮肤的非压痛孤立性结节肿块。除了左下颌下腺肿胀的肿块外,计算机断层扫描或超声检查没有特殊发现。患者接受了手术切除。病理检查证实SC伴神经浸润。该病例的免疫组织化学检查显示P63,P40,CK7,CK8/18,MLH1,MSH2,MSH6和PMS2阳性染色。样本雄激素受体阴性,CEA,S-100,CK5/6,SOX-10,SOX-11,SMA,和GCDFP-15。KI-67标记指数确定为15%。部分区域PAS和抗上皮膜抗原阳性。病人仍在接受随访,2个月无转移或复发。
    UNASSIGNED:这个案例突出了一个事实,尽管它很少,SC应被视为头部和面部肿块的鉴别诊断。早期和准确的诊断,随后是广泛的手术切除,预后良好。因此,临床医师应熟悉本病的临床和病理特点。
    UNASSIGNED: Sebaceous carcinoma (SC) of the submandibular gland is extremely rare. Owing to the low morbidity and nonspecific clinical manifestations, diagnosis is commonly delayed, which increases metastasis and mortality. To date, there have been five reported cases of SC of the submandibular gland. Here, we present a new case and review the relevant literature.
    UNASSIGNED: A 36-year-old woman presented with an enlarged left submandibular gland. Clinical features included a non-tender solitary nodular mass with normal overlying skin. There were no special findings on computed tomography or ultrasound examination except for a swollen mass in the left submandibular gland. The patient underwent surgical resection. Pathological examination confirmed the diagnosis of SC with nerve infiltration. Immunohistochemical examination of this case showed positive staining for P63, P40, CK7, CK8/18, MLH1, MSH2, MSH6, and PMS2. The specimen was negative for androgen receptor, CEA, S-100, CK5/6, SOX-10, SOX-11, SMA, and GCDFP-15. The KI-67 labeling index was determined to be 15%. PAS and anti-epithelial membrane antigen were positive in partial area. The patient is still undergoing follow-up, and no metastasis or recurrence has been observed for 2 months.
    UNASSIGNED: This case highlighted the fact that despite its rarity, SC should be considered as a differential diagnosis for masses located in the head and face. Early and accurate diagnosis, followed by wide surgical excision, has a favorable prognosis. Therefore, clinicians should be familiar with the clinical and pathological features of this disease.
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  • 文章类型: Case Reports
    外胚层畸形-外胚层发育不良-裂隙(EEC)综合征是一种常染色体显性疾病,其特征是外胚层,外胚层发育不良,和口面裂开。降低的外显率表现在这些核心特征和其他未被认可的特征中,尤其是产前病例。这里,我们在妊娠22周时提出了一个患有EEC综合征的胎儿,产前超声显示唇腭裂和右侧多囊肾。通过与EEC综合征相关的全外显子组测序证实TP63基因中R304W的从头错义突变。我们进一步调查了报告的TP63相关的产前病例,并提供了有关EEC的产前表型谱的更完整图片。它说明了TP63相关疾病中泌尿生殖系统异常的潜在严重程度,并强调需要为EEC综合征的可能性提供咨询,考虑到泌尿生殖异常伴口面裂或肢体畸形的发生。
    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting. Reduced penetrance is manifested in these core features and additional under-recognized features, especially in prenatal cases. Here, we present a fetus with EEC syndrome at 22 weeks gestation, in which the cleft lip and palate and the right polycystic kidney are shown by prenatal ultrasound. A de novo missense mutation of R304W in the TP63 gene is confirmed by whole-exome sequencing associated with EEC syndrome. We further investigate the reported TP63-related prenatal cases and provide a more complete picture of the prenatal phenotypic spectrum about EEC. It illustrates the potential severity of genitourinary anomalies in TP63-related disorders and highlights the need to counsel for the possibility of EEC syndrome, given the occurrence of genitourinary anomalies with orofacial cleft or limb deformities.
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  • 文章类型: Case Reports
    Oral metastasis, although rare, tends to involve jawbones, particularly the posterior region of the mandible, and involvement of oral soft tissues, even when less likely, is most often seen on the gingiva and tongue. Clinically, the soft-tissue masses tend to mimic pyogenic granuloma, peripheral giant cell granuloma or an epulis and thus are difficult to diagnose and identify. The jaw bone is preferred by prostate carcinoma as a metastatic target. Prostate malignancy, which is more common in Western countries than in India, may be adenocarcinomas or carcinomas. Oftentimes, metastatic lesions develop in the alveolar region and are a cause for tooth mobility, yet, they tend to be detected only after extraction of the affected tooth. In such cases, the symptomatic presentation therefore, is vague and indicative of tooth mobility secondary to periodontal pathology unless, a detailed history and follow-up is done. We report a case of a male patient who presented to our department with a proliferative, painful, swelling postextraction of the left first molar region, and the lesion was seen at the extraction site as well as in the mandibular anterior tooth region. The swelling was associated with palpable lymph nodes. Orthopantomogram showed an irregular, radiolucent lesion extending from the lower left central incisor to the left first molar region in the mandibular alveolus. Incisional biopsy tissue came with provisional diagnosis of osteomyelitis or squamous cell carcinoma as the patient was a habitual bidi smoker for more than 20 years. Histologically, it was an undifferentiated tumor with tumor cells seen in deep connective tissue with a lack of lineage differentiation. An undifferentiated malignant tumor represents either a metastasis of unknown origin or a primary neoplasia without obvious cell line of differentiation. Immunohistochemistry (IHC) of undifferentiated tumors helps to categorize them into small round blue cell tumors or large cell tumors. The oral pathologist was perplexed as there was no mention of any other malignancy in the patient\'s history, which, however, was noted by the surgeons few days later. Hence, initially, a hematopoietic malignancy was suspected which was ruled out by IHC, and later, staining with cytokeratin 7 (CK7), CK-high molecular weight and P63 confirmed prostate metastases as all three were negative.
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  • 文章类型: Journal Article
    尿路上皮休息,也被称为Walthard休息,是上皮细胞的良性巢,最常见于女性妇科。附录中仅描述了这些尿路上皮休息中的四个。病例报告:一名10岁女性因阑尾炎行阑尾切除术。组织学上,有急性阑尾炎,并确定了偶然的尿路上皮休息,通过p63,CK7阳性和突触素阴性的免疫染色证实。CD34突出了内皮细胞的边缘。结论:尿路上皮休息,经常出现在女性妇科系统中,可能发生在其他网站,如附录。这些良性病变需要与神经内分泌病变区分开。在我们的报告中,内皮细胞的边缘支持血管迁移起源。
    UNASSIGNED: Urothelial rests, also known as Walthard rests, are benign nests of epithelial cells that most often are found in the female gynecologic tract. Only four of these urothelial rests have been described in the appendix. Case report: A 10-year-old female underwent an appendectomy for appendicitis. Histologically, there was acute appendicitis, and an incidental urothelial rest was identified, confirmed by immunostains positive for p63, CK7, and negative for synaptophysin. CD34 highlighted a rim of endothelial cells. Conclusion: Urothelial rests, which often appear in the female gynecologic tract, can occur in other sites such as the appendix. These benign lesions require differentiation from neuroendocrine lesions. The rim of endothelial cells in our report supports a vascular migrational origin.
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